LYSOSOMAL STORAGE DISEASES

Question 1

Progressive neurodegeneration, developmental delay, hyperreflexia, hyperacusis, “cherry-red” spot on macula A , lysosomes with onion skin, no hepatosplenomegaly (vs Niemann-Pick).

deficiency
HeXosaminidase A

accumulated
GM2 ganglioside

Answer 1

Tay-Sachs disease

Sphingolipidoses

Question 2

Early: triad of episodic peripheral neuropathy, angiokeratomas B, hypohidrosis.

Late: progressive renal failure, cardiovascular disease.

deficiency
α-galactosidase A

accumulated
Ceramide trihexoside

Answer 2

Fabry disease

Sphingolipidoses

Question 3

Central and peripheral demyelination with ataxia, dementia.

deficiency
Arylsulfatase A

accumulated
Cerebroside sulfate

Answer 3

Metachromatic leukodystrophy

Sphingolipidoses

Question 4

Peripheral neuropathy, destruction of oligodendrocytes, developmental delay, optic atrophy, globoid cells.

deficiency
Galactocerebrosidase (galactosylce-ramidase)

accumulated
Galactocerebroside,
psychosine

Answer 4

Krabbe disease

Sphingolipidoses

Question 5

Most common.

Hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femur, bone crises, Gaucher cells C
(lipid-laden macrophages resembling crumpled tissue paper).

deficiency
Glucocerebrosidase
(β-glucosidase); treat
with recombinant
glucocerebrosidase

accumulated
Glucocerebroside

Answer 5

Gaucher disease

Sphingolipidoses

Question 6

Progressive neurodegeneration,
hepatosplenomegaly, foam cells (lipid-laden macrophages),
“cherry-red” spot on macula.

deficiency
Sphingomyelinase

accumulated
Sphingomyelin

Answer 6

Niemann-Pick disease

Sphingolipidoses

Question 7

Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly.

deficiency:α-l-iduronidase

accumulated: Heparan sulfate,
dermatan sulfate

Answer 7

Hurler syndrome

Mucopolysaccharidoses

Question 8

Mild Hurler + aggressive behavior, no corneal clouding.

deficiency: Iduronate-2-sulfatase

accumulated: Heparan sulfate,
dermatan sulfate

Answer 8

Hunter syndrome

Mucopolysaccharidoses